What is Friedreich’s Ataxia?
Friedreich’s ataxia, also known as FA and FRDA, is an inherited disease-causing nervous system damage and movement difficulties.
Typically beginning in childhood, Friedreich’s ataxia leads to degrading muscle coordination over time.
Friedreich’s ataxia affects the spinal cord and peripheral nerves. The brain’s cerebellum, which controls balance and movement, also degrades.
This damage results in unsteady movements and impaired sensory functions.
The condition also causes problems in the heart and spine, and some develop diabetes. The disorder does not affect intellect.
A mutation in the gene FXN causes Friedreich’s ataxia. The condition is recessive, only occurring when someone inherits two copies of the gene, one from each parent.
Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia, affecting about one in every 50,000 people in the United States.
Both male and female children can inherit the disorder. The condition is named after Nicholaus Friedreich, the German doctor who first documented the condition in the 1860s.
Symptoms of Friedreich’s Ataxia
Friedreich’s Ataxia symptoms typically begin between the ages of five and fifteen. However, they can appear in adulthood, as late as age 75.
The main symptoms include:
- Difficulty walking (initial symptom)
- Progressive worsening of walking difficulties
- Spread of symptoms to the arms and trunk
- Loss of sensation in the extremities
- Potential spread of sensory loss to other body parts
- Loss of tendon reflexes, especially in the knees and ankles
- Development of scoliosis (curving of the spine to one side)
- Slowness and slurring of speech
- Potential hearing loss
- Potential vision loss
- Varied speed of disease progression
- Wheelchair dependence within 10 to 20 years after initial symptoms
- Potential complete incapacitation in later stages of the disease.
How is Friedreich’s Ataxia diagnosed?
Diagnosing Friedreich’s ataxia requires clinical examination, including medical history and a thorough physical exam, looking for balance difficulty, loss of joint sensation, absence of reflexes, and signs of neurological problems. Currently, genetic testing provides a conclusive diagnosis.
How is Friedreich’s Ataxia treated?
Many of the symptoms and accompanying complications of Friedreich’s ataxia can be treated to help individuals maximize function as long as possible.
Orthopaedic problems such as foot deformities and scoliosis can be corrected with braces or surgery.
Physical therapy may prolong the use of the arms and legs.
Advances in understanding the genetics of Friedreich’s ataxia are leading to breakthroughs in treatment.
Research has moved forward to the point where clinical trials of proposed treatments are presently occurring for Friedreich’s ataxia.
Prognosis for Friedreich’s Ataxia
The symptoms of Friedreich’s ataxia can shorten life expectancy, especially when heart disease is a factor.
However, some people with less severe cases of Friedreich’s ataxia live full lifespans.
Mobility for those with Friedreich’s Ataxia
Many with Friedreich’s ataxia experience the progressive loss of the ability to walk, necessitating a power wheelchair.
Quantum Rehab, the global leader in individualized powerchairs, emphasizes mobility technologies specific to the needs of those with Friedreich’s ataxia.
Quantum powerchairs incorporate power-adjustable seating for user repositioning and comfort; speciality drive controls, including using a single finger or one’s head to operate the powerchair; and a highly adaptable design to meet an individual’s current and future needs.
Quantum powerchairs feature the latest advanced technologies to increase the independence of those living with Friedreich’s ataxia.
iLevel seat elevation technology allows users to operate the power chair at seated or standing height.
Bluetooth is also integrated into Quantum’s Q-Logic 3 electronics, so those with Friedreich’s ataxia can operate much of their environment with the power chair drive control.
Quantum powerchairs are designed to provide optimal medical comfort and maximum independence for those with Friedreich’s ataxia.
Quantum Rehab power bases consist of a wide array of models, each incorporating various components to accommodate the comprehensive needs of individuals requiring a complex rehab product.
The Quantum Edge 3 with industry-first 4.5 mph at iLevel offers the most advanced power chair experience.
Q6 powerchair series, which includes the Edge 3 and Q6 Edge 2 power chairs, provide highly adjustable mid-wheel drive power bases.
The Q6 Edge 2 accepts our optional iLevel technology, which offers up to 12 inches of lift at 4.5 mph.
The 4Front is a quiet, more responsive front-wheel drive power chair that features automotive-grade suspension with unprecedented comfort and rides quality
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